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Quoted phrase not found in phrase index: "Retinitis pigmentosa 90"
Page 1
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R. Zhu T, et al. Br J Ophthalmol. 2021 May;105(5):694-703. doi: 10.1136/bjophthalmol-2019-315786. Epub 2020 Jul 16. Br J Ophthalmol. 2021. PMID: 32675063
AIMS: To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation. ...RESULTS: A total of 230 …
AIMS: To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinit …
Cilia-related diseases.
Afzelius BA. Afzelius BA. J Pathol. 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. J Pathol. 2004. PMID: 15495266 Free PMC article. Review.
Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells-this is the cause of retinitis p …
Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive deg …
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M. Bhardwaj A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. Indian J Ophthalmol. 2022. PMID: 35791117 Free PMC article. Review.
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...In this review, we are going to focus on the genetic heterogeneity of this disease, which is provided by various inheritance patterns, numerosity of variations and inter-/intra-familial var …
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...In this review, we are going to focus on the gene …
Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.
Bunel M, Chaudieu G, Hamel C, Lagoutte L, Manes G, Botherel N, Brabet P, Pilorge P, André C, Quignon P. Bunel M, et al. Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23. Hum Genet. 2019. PMID: 30904946 Review.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with different ages of onset, progression and severity. Human RP, first characterized by the progressive degeneration of rod photoreceptor cells, shows …
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with differe …
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Kuehlewein L, et al. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.
OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial. DESIGN, SETTING, …
OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentos …
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
Rose AM, Bhattacharya SS. Rose AM, et al. Clin Genet. 2016 Aug;90(2):118-26. doi: 10.1111/cge.12758. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26853529 Review.
Retinitis pigmentosa (RP) is a genetically heterogenous group of inherited disorders, characterized by death of the retinal photoreceptor cells, leading to progressive visual impairment. ...
Retinitis pigmentosa (RP) is a genetically heterogenous group of inherited disorders, characterized by death of the retinal ph …
Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I.
Parameswarappa DC, Das AV, Dave VP, Agarwal K, Natarajan R, Jalali S. Parameswarappa DC, et al. Semin Ophthalmol. 2022 Apr 3;37(3):284-290. doi: 10.1080/08820538.2021.1957126. Epub 2021 Aug 17. Semin Ophthalmol. 2022. PMID: 34404308
AimTo describe the clinical presentation and demographic distribution of retinitis pigmentosa in patients presenting to a multi-tier ophthalmology hospital network in India and implications for potential treatments.DesignCross-sectional hospital-based study.MethodsT …
AimTo describe the clinical presentation and demographic distribution of retinitis pigmentosa in patients presenting to a mult …
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ. Kim DG, et al. Genes (Basel). 2023 May 8;14(5):1057. doi: 10.3390/genes14051057. Genes (Basel). 2023. PMID: 37239417 Free PMC article.
Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with retinitis pigmentosa (RP) were included. One patient (9.1%) had autosomal recessive inheritance, and the other ten patients (90 …
Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with ret …
Cutaneous findings in Bardet-Biedl syndrome.
Haws RM, McIntee TJ, Green CB. Haws RM, et al. Int J Dermatol. 2019 Oct;58(10):1160-1164. doi: 10.1111/ijd.14412. Epub 2019 Feb 20. Int J Dermatol. 2019. PMID: 30790276
Obesity, a cardinal feature of BBS, was present in the majority of subjects (90.3%) and was accompanied by known obesity-related dermatologic disorders. ...
Obesity, a cardinal feature of BBS, was present in the majority of subjects (90.3%) and was accompanied by known obesity-related derm …
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
RESULTS: The mean age onset for CD was 16 years (standard deviation, 11), and of CRD 12 years (standard deviation, 11; P = 0.02). The pattern of inheritance was AR in 92% of CD and 90% of CRD. Ten years after diagnosis, 35% of CD and 51% of CRD had a bull's eye maculopathy …
RESULTS: The mean age onset for CD was 16 years (standard deviation, 11), and of CRD 12 years (standard deviation, 11; P = 0.02). The patter …
97 results